Myopathy, Myofibrillar, 9, with Early Respiratory Failure (MFM9)

Alias:

Hereditary Myopathy with Early Respiratory Failure

Hmerf

Edstrom Myopathy

Myopathy, Proximal, with Early Respiratory Muscle Involvement

Mfm-Titinopathy

Hereditary Inclusion Body Myopathy with Early Respiratory Failure

Myofibrillar Myopathy with Early Respiratory Failure

Myofibrillar Myopathy-Titinopathy

Hibm-Erf

Mfm9

Mprm

Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9 with Early Respiratory Failure

Myofibrillar Myopathy 9

Autosomal Dominant Distal Myopathy with Early Respiratory Failure

Proximal Myopathy with Early Respiratory Muscle Involvement

Edström Myopathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Myofibrillar, 9, with Early Respiratory Failure, also known as hereditary myopathy with early respiratory failure, is related to muscular dystrophy, limb-girdle, autosomal recessive 10 and cardiomyopathy, dilated, 1g. An important gene associated with Myopathy, Myofibrillar, 9, with Early Respiratory Failure is TTN (Titin), and among its related pathways/superpathways are Cellular response to heat stress and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle and heart, and related phenotypes are gait disturbance and skeletal muscle atrophy

Related ID：

MALACARDS：MYP153

OMIM：603689

MESH：D009135