✦ LIBER ✦

Autosomal recessive inheritance of classic Bethlem myopathy

✍ Scribed by A. Reghan Foley; Ying Hu; Yaqun Zou; Alexandra Columbus; John Shoffner; Diane M. Dunn; Robert B. Weiss; Carsten G. Bönnemann

Book ID: 116794321
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 403 KB
Volume: 19
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2009.09.010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

EM.P.4.06 Autosomal recessive inheritanc

EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy

✍ A.R. Foley; J. Shoffner; R. Weiss; C.G. Bonnemann 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 39 KB

EM.P.4.07 Autosomal recessive Bethlem my

EM.P.4.07 Autosomal recessive Bethlem myopathy

✍ F. Gualandi; A. Urciuolo; E. Martoni; P. Sabatelli; S. Squarzoni; M. Bovolenta; 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 52 KB

Further investigations on benign myopath

Further investigations on benign myopathy with autosomal dominant inheritance

✍ W. F. Arts; J. Bethlem; W. S. Volkers 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 596 KB

Six members of a family suffered from benign myopathy over four generations. The clinical, laboratory, electromyographic, histological and genetic data were consistent with benign myopathy with autosomal dominant inheritance. Congenital torticollis was a feature in one patient. Linkage studies revea

Autosomal Recessive Inheritance of Eryth

Autosomal Recessive Inheritance of Erythrokeratoderma Variabilis

✍ D. K. B. Armstrong; T. H. Hutchinson; M. Y. Walsh; J. C. McMillan 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 415 KB

Autosomal recessive inheritance of renal

Autosomal recessive inheritance of renal glycosuria

✍ Louis J. Elsas; Dietrich Busse; Leon E. Rosenberg 📂 Article 📅 1971 🏛 Elsevier Science 🌐 English ⚖ 658 KB

Autosomal recessive inheritance of vasop

Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

✍ Langley, J. M. ;Balfe, J. W. ;Selander, T. ;Ray, P. N. ;Clarke, J. T. R. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 520 KB

We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of