Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types, an
isolated form and a complex form. We review the clinical, biochemical and molecular genetic …

We assessed the quantity (relative cellular abundance) and quality (approximate molecular
weight) of dystrophin in muscle biopsies from 97 patients with a diagnosis of possible …

• We previously reported the results of a randomized, double-blind 6-month trial of
prednisone therapy in which 102 boys aged 5 to 15 years with Duchenne muscular …

We report a family with an X-linked recessive disorder characterized by muscle cramps and
myalgia. Nine affected male family members had high resting serum levels of creatine …

Brain Biochemistry and Brain Disorders : Cognitive and Behavioral Neurology Brain
Biochemistry and Brain Disorders : Cognitive and Behavioral Neurology Log in or Register …

This report describes a large consanguineous family with muscular dystrophy in 23 patients
showing intrafamilial variation of clinical expression. One main variant appeared in the first …

Individuals from families in which inherited disorders have been identified frequently wish to
know whether they have their family's disease, the risk of passing the disease to their …

A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were anlysed
for deletions in the central region of the dystrophin gene in order to determine if there was a …

A family study was carried out to clarify the problem of two separate muscle disease
phenotypes in a large consanguineous pedigree. These were a severe limb-girdle type …

Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy
prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis …