Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033565
Abstract: Rationale: Flail arm syndrome (FAS) only involves the upper limbs early stage and manifests as proximal weakness and atrophy of both upper limbs and decreased tendon reflexes. As a benign variant type of amyotrophic lateral… read more here.
Keywords: arm syndrome; duplication mutations; smn1 gene; gene ... See more keywords
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13796
Abstract: To the Editor: Spinal muscular atrophy (SMA) is an autosomal recessive disorder (MIM #253300) with a pan-ethnic distribution. It is characterized by progressive degeneration of alpha motor neurons in the spinal cord, which results in… read more here.
Keywords: carrier screening; smn1 gene; spinal muscular; sma ... See more keywords