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Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms

✍ Scribed by Kenzo Hamano; Haruko Tsukamoto; Takuya Yazawa; Masahiro Yoshimura; Hitoshi Takita

Book ID
119173347
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
962 KB
Volume
10
Category
Article
ISSN
0887-8994

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Infantile spinal muscular atrophy with r
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## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin μ‐binding protein 2 (__IGHMBP2__)

Extended phenotype of pontocerebellar hy
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## Abstract Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH‐1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder diseas