Pseudometalic variability of and phenotypic variability of calpain deficiency in two siblings

Muscle and Nerve

Volumn 21, Issue 8, 1998, Pages 1078-1080

  Pénisson Besnier, Isabelle ^a   Richard, Isabelle ^b   Dubas, Frédéric ^a   Beckmann, Jacques S ^b   Fardeau, Michel ^c  

^a SERVICE DE PNEUMOLOGIE   (France)

^b GÉNÉTHON   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Calpain; Clinical heterogeneity; Limb girdle muscular dystrophy type 2A; Molecular genetics; Phenotype

Indexed keywords

CALPAIN;

ADULT; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; SIBLING; ATROPHY; ENZYMOLOGY; FAMILY HEALTH; GENETICS; MALE; METABOLISM; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR FAMILY; PATHOLOGY; PATHOPHYSIOLOGY; REUNION; SKELETAL MUSCLE;

ADULT; ATROPHY; CALPAIN; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NUCLEAR FAMILY; PHENOTYPE; REUNION;

EID: 0032132736     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199808)21:8<1078::AID-MUS15>3.0.CO;2-Q     Document Type: Article

References (4)

1. Fardeau M, Eymard B, Mignard C, Tomé FMS, Richard I, Beckmann JS: Chromosome 15-linked limb girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities. Neuromusc Disord 1996;6:447-453.
2. Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tomé FMS, Richard I, Beckmann J: Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996;119:295-308.
3. Gardner-Medwin D, Walton JN: The clinical examination of the voluntary muscles, in Walton JN (ed): Disorders of Voluntary Muscles, 3rd ed. Edinburgh, Churchill Livingstone, 1974, pp 517-560.
4. Richard I, Bronx O, Allamand V, Fougerousse F, Chainnilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995;81:27-40.