Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.L202delFs
Back to variants list

MTM1

NM_000252.3:p.L202delFs

Associated Papers

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Drouet A et al.

Revue Neurologique, 2008

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Schara U et al.

Neurology, 2003

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Savarese M et al.

Neuromuscular Disorders : Nmd, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."