Volume 7; Issue 4

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Neuromuscular Disorders
Volume 7; Issue 4

Neuromuscular Disorders

Volume 7; Issue 4

1

Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

Bjarne Udd, Ralf Krahe, Carina Wallgren-Pettersson, Björn Falck, Hannu Kalimo

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 814 KB

english, 1997

2

C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg) – correlations with clinical, neurophysiological and muscle biopsy data

Kristian Borg, Gabrielle Åhlberg, Maria Anvret

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 90 KB

english, 1997

3

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

Louis J Ptáček

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 66 KB

english, 1997

4

From mutation to myotonia in sodium channel disorders

Stephen C Cannon

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 328 KB

english, 1997

5

Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel

Pascale Lapie, Philippe Lory, Bertrand Fontaine

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 219 KB

english, 1997

6

Correspondence

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 35 KB

english, 1997

7

A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy

H.H Goebel, S Seddigh, H.C Hopf, T Uemichi, M.D Benson, V.A McKusick

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 32 KB

english, 1997

8

Welander distal myopathy is not linked to other defined distal myopathy gene loci

Gabrielle Åhlberg, Kristian Borg, Lars Edström, Maria Anvret

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

9

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1?

Jacqueline Taylor, Francesco Muntoni, Stephanie Robb, Victor Dubowitz, Caroline Sewry

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 328 KB

english, 1997