Disease - Spinal muscular atrophy 4
- DefinitionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk.
- AcronymSMA4
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Browse 1 entry- Survival motor neuron protein · Gene: SMN1 (SMN, SMNT); SMN2 (SMNC) · Homo sapiens (Human) · 294 amino acids · Evidence at protein level · Annotation score: 5/5