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

Myopathy, Myofibrillar, 9, with Early Respiratory Failure(来自ICD-11)

别称:

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

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