Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy

Alias:

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy

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Gene & Mutation

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Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy, also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, is related to spinal muscular atrophy with lower extremity predominant and spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant. An important gene associated with Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Affiliated tissues include bone and brain.

Related ID：

MALACARDS：ATS237