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

Research paper by Danielle D Carpenter, Azzam A Ismail, Rachel L RL Robinson, Christopher C Ringrose, Patrick P Booms, David E DE Iles, P Jane PJ Halsall, Derek D Steele, Marie-Anne MA Shaw, Philip M PM Hopkins

Indexed on: 01 Aug '09Published on: 01 Aug '09Published in: Muscle & Nerve

Read article More Like This

Abstract

In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.

More like this:

The reduction square root and perturbation for a class of strongly continuous operator families

Research paper by Chuang Chen, Xiao Qiu Song, Hui Min Li

Indexed on: 01 Feb '10

Published on: 01 Feb '10 in Acta Mathematica Sinica, English Series

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Research paper by Sobia S Shafique, Saima S Siddiqi, Margit M Schraders, Jaap J Oostrik, Humaira H Ayub, Ammad A Bilal, Muhammad M Ajmal, Celia Zazo CZ Seco, Tim M TM Strom, Atika A Mansoor, Kehkashan K Mazhar, Syed Tahir A ST Shah, Alamdar A Hussain, Maleeha M Azam, Hannie H Kremer, et al.

Indexed on: 21 Jun '14

Published on: 21 Jun '14 in PloS one

Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected Pakistani Cohorts.

Research paper by Muhammad M Yasir Zahoor, Huma Arshad HA Cheema, Sadaqat S Ijaz, Zafar Z Fayyaz

Indexed on: 27 Jan '21

Published on: 05 Oct '19 in Fetal and pediatric pathology