Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases

Angelis, M. S. De; Palmucci, L.; Leone, Maurizio; Doriguzzi, C.

doi:10.1016/0022-510x(91)90275-c

Cited by 33 publications

(17 citation statements)

References 74 publications

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“…Affected males exhibit profound global hypotonia and weakness, accompanied by respiratory difficulties that often require ventilation. The clinical features of the two cases presented herein did not differ from those of previously reported cases 3,5-8. Most of these patients die during infancy or early childhood, but some survive into later childhood or even adulthood.…”

Section: Discussionsupporting

confidence: 47%

Two Cases of X-Linked Myotubular Myopathy with NovelMTM1Mutations

et al. 2013

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BackgroundMyotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form.Case ReportThis report describes two male infants with X-linked MTM (XLMTM). Both patients presented with generalized hypotonia and respiratory difficulties since birth. We did not perform a muscle biopsy in either patient, but their conditions were diagnosed by genetic testing of MTM1. One splicing mutation, c.63+1G>C, and a frame-shift mutation, c.473delA (p. Lys158SerfxX28), were identified. Neither mutation has been reported previously.ConclusionsGenetic testing for MTM1 is helpful for the differential diagnosis of floppy male infants. We suggest that advanced molecular genetic testing may permit a correct diagnosis while avoiding invasive procedures.

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Section: Discussionsupporting

confidence: 47%

Two Cases of X-Linked Myotubular Myopathy with NovelMTM1Mutations

et al. 2013

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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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“…However this syndrome, very heterogeneous for clinical and genetic features [38], is characterized by the presence of central nuclei in many fibres as the most prominent alteration. In the presented case central nuclei were only one of the pathological changes and not so prominent as to support the diagnosis of centronuclear myopathy.…”

Section: Discussionmentioning

confidence: 99%

Congenital Muscular Dystrophy Associated with Familial Junctional Epidermolysis Bullosa Letalis

Doriguzzi¹,

Palmucci²,

Mongini³

et al. 1993

Eur Neurol

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A 20-year-old patient was born with epidermolysis bullosa and a severe, slowly progressive muscle disease. Skin biopsy demonstrated junctional epidermolysis bullosa. Muscle biopsy demonstrated degenerative changes with increase in connective tissue, fibre size variability, rods and cytoplasmic bodies, central nuclei. In muscle biopsy dystrophin, chondroitin unsulphate, chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, collagen III, collagen IV and VI, laminin, and fibronectin were normally distributed. This is the first report of the association of a form of congenital muscular dystrophy with junctional epidermolysis bullosa and, together with the previous reports of muscle involvement in epidermolysis bullosa simplex and dystrophica, it suggests the existence of a syndrome characterized by the contemporaneous presence of skin and muscle involvement.

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Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases

Cited by 33 publications

References 74 publications

Two Cases of X-Linked Myotubular Myopathy with NovelMTM1Mutations

Two Cases of X-Linked Myotubular Myopathy with NovelMTM1Mutations

Congenital myopathies: Clinical and immunohistochemical study

Congenital Muscular Dystrophy Associated with Familial Junctional Epidermolysis Bullosa Letalis

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