Last update 01 Nov 2024

Muscular Atrophy, Spinal, Type II

Basic Info

Synonyms
2型脊髓性肌萎缩, Intermediate spinal muscular atrophy, Late infantile spinal muscular atrophy
+ [23]
Introduction
An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III.

Analysis

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