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Distal spinal muscular atrophy type 2
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Distal spinal muscular atrophy type 2 : ウィキペディア英語版
Distal spinal muscular atrophy type 2

Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMN-J) — is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been described in Arab inhabitants of Jerash region in Jordan〔(【引用サイトリンク】url=http://www.rarediseasesnetwork.org/INC/professional/disorders/HMN/ )〕 as well as in a Chinese family.
The condition is linked to a genetic mutation in the ''SIGMAR1'' gene on chromosome 19 (locus 19p13.3) and is likely inherited in an autosomal recessive manner.〔
==References==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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