Congenital autosomal dominant distal spinal muscular atrophy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference13 articles.
1. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy;van der Steege;Lancet,1995
2. Autosomal dominant distal spinal muscular atrophy in four generations;Boylan;Neurology,1995
3. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature;Harding;J Neurol Sci,1980
4. Dominant inherited spinal muscular atrophy with atrophic and hypertrophic calves;Groen;J Neurol Sci,1993
5. Distal spinal muscular atrophy: a clinical and genetic study of 8 kindreds;Pearn;J Neurol Sci,1979
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2. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2;Brain and Development;2018-04
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4. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features;European Journal of Human Genetics;2017-06-21
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