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Article

X-linked myotubular myopathy with probable germline mosaicism.

Clinical neuropathology - 1 Jan 2000

Menon K, Rao T V, Bhat B A, El Amin E O

Abstract excerpt

X-linked myotubular myopathy is a disorder characterized by severe neonatal hypotonia and respiratory insufficiency. The mutation of MTMI gene results in a defective production of myotubularin, which is responsible for the maturational arrest of muscle development. An identical mutation in the carrier mother and the diseased child establishes the inheritance. We report the disease in a neonate with a mutation on...

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Source

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PMID: 12489675

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Source receipt: pubmed, retrieved 7 Sept 2026.

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