๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

โœ Scribed by I. Nelson; M. G. Hanna; N. Alsanjari; F. Scaravilli; J. A. Morgan-Hughes; Prof. A. E. Harding


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
471 KB
Volume
37
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


The expanding clinical phenotype of the
โœ Feigenbaum, Annette; Chitayat, David; Robinson, Brian; MacGregor, Daune; Myint, ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 16 KB ๐Ÿ‘ 2 views

We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a

Maternally inherited cardiomyopathy: A n
โœ Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; Elisabett ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 296 KB ๐Ÿ‘ 1 views

The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w

Clinical, pathological, and genetic feat
โœ Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 2 views

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ยฑ 3.1 years (mean ยฑ SD), and loss of ambulance occurred at 38.5 ยฑ 2.1 years. Muscle atrophy was predominant in