Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant (SMALED2A)

Alias:

Smaled2a

Spinal Muscular Atrophy, Lower Extremity-Predominant 2a, Childhood Onset, Autosomal Dominant

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures

Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Autosomal Dominant

Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 2a

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Gene & Mutation

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Disease Model

References Literature

Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant, also known as smaled2a, is related to spinal muscular atrophy with lower extremity predominant and spinal muscular atrophy with lower extremity predominant 2a. An important gene associated with Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant is BICD2 (BICD Cargo Adaptor 2). Affiliated tissues include spinal cord and skeletal muscle.

Related ID：

MALACARDS：SPN426

OMIM：615290

MESH：D009134