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Browse result for Severe X-linked myotubular myopathy

※ introduction

    X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulties.

Reference
Wiki: Severe X-linked myotubular myopathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05389P505701785
DNM2
Dynamin-2
Homo sapiens
PTMD06563Q134964534
MTM1
Myotubularin
Homo sapiens