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1.  Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy 
Acta Myologica  2014;33(1):19-21.
Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia.
We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the age of 40. Creatine kinase (CK) was increased 20-fold. Histologically the dominating feature was necrotizing myopathy, but long-term immunosuppressive therapy did not change CK level or myopathic symptoms. Molecular genetic investigation led to the finding of the homozygous ANO5 c.191dupA mutation. This is a report of a muscular dystrophy due to ANO5 mutation presenting histologically as necrotizing myopathy. For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.
PMCID: PMC4021630  PMID: 24843231
Anoctamin 5; limb girdle muscular dystrophy 2L; necrotizing myopathy
2.  A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene 
Acta Myologica  2013;32(3):166-169.
Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized by late-onset polyneuropathy with a very mild clinical course. This rare form of CMT2A disease is caused by a new splice-site (c.311+1G>T) mutation within the MFN2 gene. Due to disturbance of the MFN2 splicing process, this mutation generates a short transcript which encodes a very short fragment of MFN2 protein. The c.311+1G>T mutation within the MFN2 gene results in the late -onset CMT2 disease.
PMCID: PMC4006276  PMID: 24803844
Charcot-Marie-Tooth disease; late-onset polyneuropathy; Mitofusin 2; splice-site mutation
3.  Familial adult-onset Pompe disease associated with unusual clinical and histological features 
Acta Myologica  2013;32(2):85-90.
The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.
PMCID: PMC3866895  PMID: 24399864
Pompe disease; globular inclusions; bulbar symptoms
4.  The accessory deep peroneal nerve and anterior tarsal tunnel syndrome: case report 
Acta Myologica  2013;32(2):110-112.
The accessory deep peroneal (ADPN) nerve has been regarded as an anomalous nerve derived from the superficial peroneal nerve or its branch and supplies motor innervations for extensor digitorum brevis (EDB) and sensory innervations for the lateral part of the ankle and foot regions. The EDB is usually innervated exclusively by the deep peroneal nerve, a major branch of the the common peroneal nerve, however, in as many as 28% of patients (with same male/female frequency), one or both of the EDB muscles are (partially or exclusively) innervated by the ADPN nerve. This anomaly appears to be inherited in autosomal dominant fashion with incomplete gene penetrance. ADPN existence is of great clinical and surgical importance, and the aim of this study is to describe a very rare case of coexistence ADPN and anterior tarsal tunnel syndrome.
PMCID: PMC3866900  PMID: 24399869
accessory deep peroneal nerve; anterior tarsal tunnel syndrome
5.  A heroin addict with focal weakness 
Acta Myologica  2013;32(1):27-29.
A 24-year-old female with 5 year history of heroin abuse experienced painless stiffness of elbow joints and weakness of shoulder and upper limb muscles. She was injecting herself 4-6 times daily alternatively in the upper extremities, sparing the lower limbs. Electromyography (EMG) showed myopathic changes in clinically affected and unaffected muscles. Magnetic resonance imaging (MRI) revealed muscle fibrosis in directly injected muscles, whereas in subcutaneous fat and within muscles of anterior and posterior compartments of both thighs, not directly injected, there were signal changes supportive of oedema and inflammation. EMG and MRI were congruent in showing abnormalities in muscles not directly injected, suggesting long distant effects of heroin or adulterants with a mechanism either toxic or immunologically mediated.
PMCID: PMC3665371  PMID: 23853507
Heroin myopathy; focal myopathy; muscle fibrosis
6.  Advances in basic and clinical research in laminopathies 
Acta Myologica  2013;32(1):18-22.
Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.
PMCID: PMC3665372  PMID: 23853505
LMNA A/C gene; laminopathies; Emery-Dreifuss muscular dystrophy
7.  An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member 
Acta Myologica  2013;32(1):23-26.
We report the first Italian kindred with Familial Amyotrophic Lateral Sclerosis (FALS) due to c.149T>C mutation in the exon 5 of superoxide dismutase-1 (SOD1) gene. The proband was a 49-year-old woman who came to our observation because of an history of progressive limbs weakness and gait impairment. She belonged to a family of 24 affected members. The prevalent phenotype of the affected members was characterized by slowly progressive spinal impairment with proximal distribution of weakness, and bulbar involvement in advanced stages. We briefly reviewed the few previous reports about the same SOD1 mutation and discussed the hypothesis that structural instability of the mutant codon 149 protein may underlie some toxic effects significantly involved in FALS pathogenesis.
PMCID: PMC3665374  PMID: 23853506
Familial ALS (FALS); superoxide dismutase 1 (SOD1); mutation
8.  On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy 
Acta Myologica  2012;31(3):201-203.
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year later. After starting appropriate cardiological treatment and non-invasive ventilation, his cardiac and pulmonary functions improved substantially, remaining stable for over the 10 years since diagnosis. In the last two years the patient had a progressive deterioration of respiratory function, enabling him to attend daily activities.
Few cases of respiratory failure in patients with adult-onset nemaline myopathy are reported, but the insidious onset in this case is even more unusual. This case highlights the wide spectrum of presenting features of adult-onset nemaline myopathy and the temporary efficacy of non invasive ventilation on respiratory function.
PMCID: PMC3631801  PMID: 23620652
Nemaline myopathy; heart failure; respiratory failure
9.  Cardiac resynchronization improves heart failure in one patient with Myotonic Dystrophy type 1. A case report 
Acta Myologica  2012;31(2):154-155.
We report an improvement in symptoms of heart failure, a reduced left ventricular dysfunction and induced reverse remodelling in one patient with Myotonic Dystrophy type 1, showing an early onset ventricular dysfunction secondary to a complete left bundle branch block (LBBB) who underwent cardioverter defibrillator CRT (ICD- CRT) implantation.
PMCID: PMC3476859  PMID: 23097608
myotonic dystrophy; cardiac resynchronization therapy; sudden death
10.  Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports 
Acta Myologica  2011;30(3):188-190.
Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/ dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.
PMCID: PMC3298093  PMID: 22616202
SANDO; heterozygote POLG1 mutations
11.  Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype 
Acta Myologica  2011;30(3):182-184.
With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD associated with an exon 26 deletion. The proband, a 23-year-old man, had slightly delayed motor milestones, walking 1½ years old. He had no complaints of muscle weakness, but had muscle pain. Clinical examination revealed no muscle wasting or loss of power, but his CK was 1500-7000 U/l. Muscle biopsy showed dystrophic changes. He had comorbidity with dystonia, slight mental retardation, low stature and neuropathy. The brother of the proband's mother came to medical attention when he was 43 years old. He complained about muscle pain. On examination, a MRC grade 4+ hip extention palsy and a discrete calf hypertrophy was noted. Creatine kinase was normal or raised maximally to 500U/l. The muscle biopsy was myopathic with increased fiber size variation and many internal nuclei, but no dystrophy. No comorbidity was found. In both cases, western blot showed a reduced dystrophin band. Genetic evaluation revealed a deletion of exon 26 of the dystrophin gene in both. This is the first description of patients with a exon 26 deletion of the dystrophin gene. Assuming the proband's comorbidity is unrelated, exon 26 deletion results in a very mild phenotype. This might be of interest in planning exon skipping therapy for Duchenne muscular dystrophy. This report also shows that BMD may present with a normal CK.
PMCID: PMC3298095  PMID: 22616200
BMD; dystrophin; deletion; exon 26
12.  Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis 
Acta Myologica  2011;30(3):185-187.
We investigated the clinical and molecular pattern of two young men affected by dysferlinopathy, that was first diagnosed as polymyositis. We show that their symptoms and clinical course although progressive were peculiar, as well as their biopsy suggesting a subsequent analysis of dysferlin protein by western blotting. Molecular analysis of dysferlin gene revealed pathogenetic mutations in both cases.
In such cases a screening with Western blot followed by DNA analysis of dysferlin gene is therefore recommended. We present a diagnostic algorythm for patients with suspected myositis but presenting signs of disease progression and poor response to steroids.
PMCID: PMC3298102  PMID: 22616201
Dysferlin; LGMD2B; Western blot
13.  Right ventricular obstructive hypertrophic cardiomyopathy in primary Myo-Adenylate Deaminase Deficiency 
Acta Myologica  2011;30(1):46-48.
MyoAdenylate Deaminase Deficiency (MADD) is a relatively common metabolic disorder of the skeletal muscle. Patients with MADD usually show an impaired bioenergetic production and a clinical spectrum with either exercise-induced muscle pain, fatigue and/or rhabdomyolysis.
Left ventricular hypertrophy as well as other types of cardiac involvement have been reported in patients with primary MADD.
We describe herein a case of a 61-year-old woman with biochemical and genetic evidence of Myo-Adenylate Deaminase deficiency, in whom we found a right ventricular hypertrophic cardiomyopathy leading to severe outflow tract dynamic obstruction.
PMCID: PMC3185826  PMID: 21842595
Echocardiography; Myo-Adenylate Deaminase deficiency; neuromuscular disorders; right ventricular disease; right ventricular hypertrabeculation; right ventricular hypertrophic cardiomyopathy
14.  Brachial plexopathy complicating Epstein-Barr virus infection in an adult 
Acta Myologica  2010;29(2):357-359.
Acute Epstein-Barr virus (EBV) infection is associated with central and peripheral neurological complications such as meningitis, encephalitis, myelitis and radiculopathy in 0.5-7.5% of patients (1). The peripheral nervous system manifestations of acute EBV infection include mononeuropathy, mononeuritis multiplex, autonomic neuropathy, and polyradiculopathy (2). Brachial plexopathy in children and immunocompromised adults with acute EBV infection has been described, likely as a dysimmune neuropathy triggered by the EBV (3, 4). We present a case of brachial plexopathy complicating prior EBV infection in a healthy adult.
PMCID: PMC3040589  PMID: 21314019
EBV; amyotrophy; demyelinating
15.  Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene 
Acta Myologica  2010;29(1):21-24.
Summary
Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in the upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs’ anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs’ anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TACP gene, already described in Brazilian patients.
PMCID: PMC2954583  PMID: 22029105
Telethonin gene; LGMD 2G; TCAP mutation; Portugal
16.  Intravenous immunoglobulin therapy in two patients with myasthenia gravis and pemphigus vulgaris 
Acta Myologica  2009;28(3):101-102.
Summary
Various forms of pemphigus have been reported to occur with myasthenia gravis (MG), with and without thymoma. We described two cases of pemphigus vulgaris associated with MG without thymoma.
Case 1. A 44 year-old woman presented with 3 years history of pemphigus vulgaris. Three years later, she developed myasthenic symptoms with elevated level of anti-acetylcholine receptor (AChR) antibodies - 5.2 nmol/L. She was thymectomised and we revealed only hyperplastic thymus.
Case 2. A 64-year-old woman had a general fatigue and intermittent double vision. She was diagnosed as MG three years later. Two months before she diagnosed as MG, she had pruritic erythematous, erosive and bullous lesions on her body and extremities.
Oral prednisolon, pyridostigmine bromide and azathioprine or cyclophosphamide didn`t adequately control MG and pemphigus in our patients, so they received intravenous immunoglobulins of 0.4 g/kg for 5 consecutive days. After that therapy, our patients markedly improved.
Conclusion: The precise pathological mechanisms of the association between pemphigus and MG are not fully understood. The thymus has been suggested to be a possible common origin of autoimmune response in these disorders.
PMCID: PMC2858944  PMID: 20476669
Myasthenia gravis; pemphigus vulgaris; intravenous immunoglobulins
17.  Unusual association of FSHD and extramedullary thoracic tumour in the same patient: a case report 
Acta Myologica  2009;28(2):76-79.
Summary
In the recent literature the association of facioscapulohumeraldystrophy (FSHD) with some hereditary neuromuscular diseases in the same patient has been reported. We present the first case in which the genetically confirmed familial FSHD is associated with an extramedullary thoracic tumour.
PMCID: PMC2858950  PMID: 20128141
Facioscapulohumeral dystrophy; atypical phenotype; extramedullary tumour
18.  Hereditary motor and sensory neuropathy Lom type in a Serbian family 
Acta Myologica  2008;27(2):59-62.
Summary
Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.
PMCID: PMC2858934  PMID: 19364063
Hereditary motor and sensory neuropathy; Lom type; NDRG1; 
19.  Phenotypic variability in siblings with Calpainopathy (LGMD2A) 
Acta Myologica  2008;27(2):54-58.
Summary
Calpainopathy is an autosomal-recessive limb girdle muscular dystrophy (LGMD2A) characterized by selective atrophy and weakness of proximal limb girdle muscles. The clinical phenotype of the disease is highly variable inter-familial, but little is known about intra-familial variability. This study reports the phenotypic variability in eight sibling pairs with genetically proven LGMD2A. Although siblings with identical mutations were often similarly affected, in some families the age of onset and the clinical course varied considerably.
PMCID: PMC2858935  PMID: 19364062
Calpainopathy; limb-girdle muscular dystrophy; genotype phenotype correlation; LGMD2A; sibling
20.  Alpha vs. Gamma sarcoglycanopathy: DNA tests solve a case from Argentina 
Acta Myologica  2007;26(2):115-118.
Summary
Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for α-, attenuated for β- and δ-, and markedly attenuated for γ-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a γ-sarcoglycanopathy. Unexpectedly, two α-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.
PMCID: PMC2949580  PMID: 18421900
Sarcoglycanopathy; α–sarcoglycan deficiency; γ–sarcoglycan deficiency

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