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4. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Bethlem J; Wijngaarden GK Brain; 1976 Mar; 99(1):91-100. PubMed ID: 963533 [TBL] [Abstract][Full Text] [Related]
5. Welander distal myopathy is not linked to other defined distal myopathy gene loci. Ahlberg G; Borg K; Edström L; Anvret M Neuromuscul Disord; 1997 Jun; 7(4):256-60. PubMed ID: 9196908 [TBL] [Abstract][Full Text] [Related]
6. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Jöbsis GJ; Keizers H; Vreijling JP; de Visser M; Speer MC; Wolterman RA; Baas F; Bolhuis PA Nat Genet; 1996 Sep; 14(1):113-5. PubMed ID: 8782832 [TBL] [Abstract][Full Text] [Related]
8. Central core disease. Study of a family with five affected generations. Byrne E; Blumbergs PC; Hallpike JF J Neurol Sci; 1982 Jan; 53(1):77-83. PubMed ID: 7057203 [TBL] [Abstract][Full Text] [Related]
9. Linkage of hereditary distal myopathy with desmin accumulation to 2q. Saavedra-Matiz CA; Chapman NH; Wijsman EM; Horowitz SH; Rosen DR Hum Hered; 2000; 50(3):166-70. PubMed ID: 10686494 [TBL] [Abstract][Full Text] [Related]
10. Congenital muscular torticollis: is heredity a possible factor in a family with five torticollis patients in three generations? Engin C; Yavuz SS; Sahin FI Plast Reconstr Surg; 1997 Apr; 99(4):1147-50. PubMed ID: 9091917 [TBL] [Abstract][Full Text] [Related]
11. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Scacheri PC; Hoffman EP; Fratkin JD; Semino-Mora C; Senchak A; Davis MR; Laing NG; Vedanarayanan V; Subramony SH Neurology; 2000 Dec; 55(11):1689-96. PubMed ID: 11113224 [TBL] [Abstract][Full Text] [Related]
12. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. Wallgren-Pettersson C; Clarke A; Samson F; Fardeau M; Dubowitz V; Moser H; Grimm T; Barohn RJ; Barth PG J Med Genet; 1995 Sep; 32(9):673-9. PubMed ID: 8544184 [TBL] [Abstract][Full Text] [Related]
18. X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. Keppen LD; Husain MM; Woody RC Clin Genet; 1987 Aug; 32(2):95-9. PubMed ID: 3652496 [TBL] [Abstract][Full Text] [Related]
19. A study of a myopathy presenting as idiopathic scoliosis. Multicore disease or mitochondrial myopathy? Fitzsimons RB; Tyer HD J Neurol Sci; 1980 Apr; 46(1):33-48. PubMed ID: 7373343 [TBL] [Abstract][Full Text] [Related]
20. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Scacheri PC; Gillanders EM; Subramony SH; Vedanarayanan V; Crowe CA; Thakore N; Bingler M; Hoffman EP Neurology; 2002 Feb; 58(4):593-602. PubMed ID: 11865138 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]