Literature DB >> 7354373

Spinal muscular atrophy and hypertrophy of the calves.

G Bouwsma, G K Van Wijngaarden.   

Abstract

In 100 patients (59 males and 41 females) suffering from proximal spinal muscular atrophy, 23 presented with hypertrophy of the calves. These were all males. They all showed an elevation of serum CK-activity. The combination of spinal muscular atrophy, hypertrophy of the calves and elevated serum CK activity was not found in females.

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Year:  1980        PMID: 7354373     DOI: 10.1016/0022-510x(80)90136-7

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  7 in total

1.  Asymptomatic benign familial spinal muscular atrophy with hypertrophy of the calves and high creatine kinase levels.

Authors:  M Yamada; M Kano; K Chida; T Furukawa; H Tsukagoshi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-03       Impact factor: 10.154

2.  Chronic neurogenic quadriceps amyotrophies.

Authors:  G Serratrice; A Pou-Serradel; J F Pellissier; H Roux; J Lamarco-Civro; J Pouget
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

3.  A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Authors:  Jordan T Gladman; Thomas W Bebee; Chris Edwards; Xueyong Wang; Zarife Sahenk; Mark M Rich; Dawn S Chandler
Journal:  Hum Mol Genet       Date:  2010-08-12       Impact factor: 6.150

4.  Clinical study of proximal spinal muscular atrophy. Report on 89 cases.

Authors:  P Tonali; S Servidei; A Uncini; D Restuccia; G Galluzzi
Journal:  Ital J Neurol Sci       Date:  1984-12

5.  A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Authors:  Eileen Workman; Luciano Saieva; Tessa L Carrel; Thomas O Crawford; Don Liu; Cathleen Lutz; Christine E Beattie; Livio Pellizzoni; Arthur H M Burghes
Journal:  Hum Mol Genet       Date:  2009-03-27       Impact factor: 6.150

6.  Neurogenic muscle hypertrophy. Report of two cases.

Authors:  D Pareyson; L Morandi; V Scaioli; R Marazzi; A Boiardi; A Sghirlanzoni
Journal:  J Neurol       Date:  1989-07       Impact factor: 4.849

7.  Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.

Authors:  C Cifuentes-Diaz; T Frugier; F D Tiziano; E Lacène; N Roblot; V Joshi; M H Moreau; J Melki
Journal:  J Cell Biol       Date:  2001-03-05       Impact factor: 10.539

  7 in total

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