Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
Orphanet Journal of Rare Diseases
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2q14 Google OMIM Orphanet PubMed [Myopathy, centronuclear, autosomal dominant] Myopathy, centronuclear, autosomal recessive *Gene map locus 2q14 Myotubular myopathy, autosomal recessive [Clinical features: proximal muscle weakness; general progressive hypotonia involving facial weakness and ptosis; ophthalmoplegia] [Inheritance: autosomal recessive] |
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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation |
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Orphanet Journal of Rare Diseases |
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Edited by Aldo Campana,
August 21, 2012
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