AbstractMutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males. Female carriers are usually asymptomatic but they may present with muscular weakness because of a hypothesized skewed pattern of X-chromosome inactivation.By combining next generation sequencing (NGS) and CGH array approaches, we have investigated the role of MTM1 variants in a large cohort of undiagnosed patients with a wide spectrum of myopathies. Seven novel XLMTM patients have been identified, including two girls with an unremarkable family history for myotubular myopathy.Moreover, we have detected and finely mapped a large deletion ca...
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by ge...
International audienceA young girl with a clinically moderate form of myotubular myopathy was found ...
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypoto-ni...
Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hyp...
AbstractMutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neon...
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MT...
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MT...
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males....
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypoto...
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly charac...
Centronuclear myopathies (CNM) are a group of diseases with variable onset and severity sharing as a...
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of ...
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of ...
X-linked recessive myotubular myopathy (XLMTM) is characterized by severe hypotonia and generalized ...
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in th...
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by ge...
International audienceA young girl with a clinically moderate form of myotubular myopathy was found ...
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypoto-ni...
Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hyp...
AbstractMutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neon...
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MT...
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MT...
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males....
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypoto...
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly charac...
Centronuclear myopathies (CNM) are a group of diseases with variable onset and severity sharing as a...
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of ...
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of ...
X-linked recessive myotubular myopathy (XLMTM) is characterized by severe hypotonia and generalized ...
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in th...
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by ge...
International audienceA young girl with a clinically moderate form of myotubular myopathy was found ...
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypoto-ni...