Centronuclear myopathy: Clinical aspects of ten Brazilian patients with childhood onset

Zanoteli, Edmar; Oliveira, Acary; Schmidt, Beny; Gabbai, Alberto Alain

doi:10.1016/s0022-510x(98)00091-4

Cited by 20 publications

(17 citation statements)

References 35 publications

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“…208, 210 As known from other hereditary diseases, earlier onset and a more severe course have been documented in autosomal‐recessive centronuclear myopathy, though apparently less severe than in XLMTM. Although autosomal centronuclear myopathy encompasses a milder clinical symptomatology and course than XLMTM, neonatal‐onset muscle weakness has been observed in the disorder, 217 but without life‐threatening respiratory failure being as frequent as in XLMTM. However, in a large series of 288 patients, death soon after birth (i.e., during the first months of life) was observed in 7 of 63 patients afflicted with autosomal‐dominant centronuclear myopathy (ACNM).…”

Section: Congenital Myopathies Without Known Gene Loci and Mutant Promentioning

confidence: 99%

Congenital myopathies at their molecular dawning

Goebel

2003

Muscle and Nerve

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The introduction and application of molecular techniques have commenced to influence and alter the nosology of congenital myopathies. Long-known entities such as nemaline myopathies, core diseases, and desmin-related myopathies have now been found to be caused by unequivocal mutations. Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a morphological hallmark as in desminopathy and actinopathy, the latter a subtype among the nemaline myopathies. Immunohistochemistry has played a crucial role in recognizing this new group of protein aggregate myopathies within the spectrum of congenital myopathies. It is to be expected that other congenital myopathies marked by inclusion bodies may turn out to be such protein aggregate myopathies, depending on analysis of individual proteins within these protein aggregates and their association with putative gene mutations.

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Section: Congenital Myopathies Without Known Gene Loci and Mutant Promentioning

confidence: 99%

Congenital myopathies at their molecular dawning

Goebel

2003

Muscle and Nerve

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“…Three main forms of CNM are recognized according to the mode of inheritance and clinical presentation7 (Table 1):…”

Section: Introductionmentioning

confidence: 99%

A rare case of centronuclear myopathy with DNM2 mutation: genotype phenotype correlation

Aghbolaghi

Lechpammer

2017

Autops. Case Rep.

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Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined. Here, we describe the case of a 17-year-old female who presented with proximal muscle weakness along with congenital anomalous pulmonary venous connection (which has not been described in previous cases of CNM), scoliosis, and lung disease without a significant family history. Her creatine kinase level was normal. Histology, special stains, and electron microscope findings on her skeletal muscle biopsy showed CNM with the characteristic features of a DNM2 mutation, which was later confirmed by next-generation sequencing. This case expands the known clinical and pathological findings of CNM with DNM2 gene mutation.

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“…However, the overall incidence of CM among the spectrum of neuromuscular diseases is unknown and so is the frequency of individual CMs. [10][11][12][13][14][15][16][17][18][19] This lack of epidemiological data is probably related to variation in the patient population studied, requirement for muscle biopsy and availability of special techniques for characterization.…”

Section: Discussionmentioning

confidence: 99%

Congenital myopathies: Clinical and immunohistochemical study

2011

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Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process.

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Centronuclear myopathy: Clinical aspects of ten Brazilian patients with childhood onset

Cited by 20 publications

References 35 publications

Congenital myopathies at their molecular dawning

Congenital myopathies at their molecular dawning

A rare case of centronuclear myopathy with DNM2 mutation: genotype phenotype correlation

Congenital myopathies: Clinical and immunohistochemical study

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