" /> Myopathy, myofibrillar, 9, with early respiratory failure - CISMeF





Preferred Label : Myopathy, myofibrillar, 9, with early respiratory failure;

Symbol : MFM9;

CISMeF acronym : HMERF; MPRM; MFM9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MPRM; Myopathy, proximal, with early respiratory muscle involvement; Edstrom myopathy; Myopathy, distal, with early respiratory failure, autosomal dominant; Hereditary myopathy with early respiratory failure; HMERF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0011);

Laboratory abnormalities : Increased creatine kinase, mild to moderate;

Prefixed ID : #603689;

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28/07/2025


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