X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

Author:

Quinzii Catarina M.,Vu Tuan H.,Min K. Christopher,Tanji Kurenai,Barral Sandra,Grewal Raji P.,Kattah Andrea,Camaño Pilir,Otaegui David,Kunimatsu Teruhito,Blake David M.,Wilhelmsen Kirk C.,Rowland Lewis P.,Hays Arthur P.,Bonilla Eduardo,Hirano Michio

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Étude clinique sur une forme hérèditaire d'atrophie musculaire progressive débutant par les membres inférieurs (type fémoral avec griffe desl orteils). PhD thesis;Broussard,1886

2. Scapuloperoneal amyotrophy;Davidenkow;Arch. Neurol. Psychiatry,1939

3. Zur nosologiscen stellung des scapulo-peronealen syndroms;Hausmanowa-Petrusewicz;Dtsch. Z. Nervenheilkd.,1962

4. Scapuloperoneal muscular atrophy;Kaeser;Brain,1965

5. The dystrophic type of scapuloperoneal syndrome;Steidl;Cesk. Neurol.,1973

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