nemaline myopathy type 1

An autosomal dominant form (OMIM:609284) of nemaline myopathy, a family of disorders characterised by muscle weakness of varying severity and onset, and abnormal thread- or rod-like structures in muscle fibres on histologic examination.

Clinical findings
NEM1 is of moderate severity, with an onset between birth and early adolescence. Weakness is diffuse and symmetrical, with slow progression and a need for a wheelchair in adulthood.
Molecular pathology
Caused by defects of TPM3, which encodes an actin-binding protein that plays a role in the contractile system of striated and smooth muscle.

单词	nemaline myopathy type 1
释义	nemaline myopathy type 1 nemaline myopathy type 1 An autosomal dominant form (OMIM:609284) of nemaline myopathy, a family of disorders characterised by muscle weakness of varying severity and onset, and abnormal thread- or rod-like structures in muscle fibres on histologic examination. Clinical findings NEM1 is of moderate severity, with an onset between birth and early adolescence. Weakness is diffuse and symmetrical, with slow progression and a need for a wheelchair in adulthood. Molecular pathology Caused by defects of TPM3, which encodes an actin-binding protein that plays a role in the contractile system of striated and smooth muscle.
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