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Items: 1 to 20 of 89

1.
2.

Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance.

Jaffe M, Shapira J, Borochowitz Z.

Clin Genet. 1988 Jan;33(1):33-7.

PMID:
3342545
3.

A benign congenital myopathy in an inbred Samaritan family.

Lev D, Sadeh M, Watemberg N, Dabby R, Vinkler C, Ginzberg M, Lerman-Sagie T.

Eur J Paediatr Neurol. 2006 Jul;10(4):182-5. Epub 2006 Sep 7.

PMID:
16959509
4.

Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.

Temtamy SA, Shoukry AS, Raafat M, Mihareb S.

Birth Defects Orig Artic Ser. 1975;11(2):104-8.

PMID:
1227520
5.
6.

Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.

Cartwright JD, Castle DJ, Duffield MG, Reef I.

Postgrad Med J. 1990 Nov;66(781):962-4.

7.

Genetics of congenital nemaline myopathy: a study of 10 families.

Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M.

J Med Genet. 1990 Aug;27(8):480-7.

8.

Ichthyosis and neutral lipid storage disease.

Williams ML, Koch TK, O'Donnell JJ, Frost PH, Epstein LB, Grizzard WS, Epstein CJ.

Am J Med Genet. 1985 Apr;20(4):711-26.

PMID:
3993689
9.

Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance.

Rosenmann A, Arad I.

J Med Genet. 1974 Mar;11(1):91-4. No abstract available.

10.

Hereditary hypertrophic neuropathy. Report of two cases of an autosomal recessive variant.

Kalyanaraman K, Cancilla PA, Munsat T, Pearson CM.

Bull Los Angeles Neurol Soc. 1970 Apr;35(2):58-68. No abstract available.

PMID:
4314732
11.

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. Review.

12.

Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.

Koppel R, Friedman S, Fallet S.

Am J Med Genet. 1996 Aug 23;64(3):485-7. Review.

PMID:
8862626
13.

Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.

Tunc T, Mungan IA, Okulu E, Tiras ST, Tekin M, Atasay B, Arsan S, Turmen T.

Genet Couns. 2009;20(3):275-9.

PMID:
19852435
14.

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

Carpenter D, Ismail A, Robinson RL, Ringrose C, Booms P, Iles DE, Halsall PJ, Steele D, Shaw MA, Hopkins PM.

Muscle Nerve. 2009 Oct;40(4):633-9. doi: 10.1002/mus.21397.

PMID:
19645060
15.

Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Almog C, Fried K, Reif R, Zieghelboim J, Lewinsohn G.

J Med Genet. 1979 Dec;16(6):435-8.

16.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F.

Neurology. 2002 Jul 23;59(2):284-7.

PMID:
12136074
17.

Autosomal recessive lethal infantile cytochrome C oxidase deficiency.

Eshel G, Lahat E, Fried K, Barr J, Barash V, Gutman A, DiMauro S, Aladjem M.

Am J Dis Child. 1991 Jun;145(6):661-4.

PMID:
1852096
18.

Additional case of opsismodysplasia supporting autosomal recessive inheritance.

Beemer FA, Kozlowski KS.

Am J Med Genet. 1994 Feb 1;49(3):344-7. Review.

PMID:
8209898
19.

The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family.

Goodman RM, Duksin D, Legum C, Bat-Miriam Katznelson M, Eshaghpour S, Rozin M, Hertz M.

Prog Clin Biol Res. 1982;104:205-14. No abstract available.

PMID:
7163267
20.

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