scholarly journals Genetic analysis of muscular dystrophies: our experience in Mexico

2021 ◽  
Vol 59 (3) ◽  
pp. 276-283
Author(s):  
Rosa Elena Escobar-Cedillo ◽  
Luz López-Hernández ◽  
Antonio Miranda-Duarte ◽  
María Dolores Curiel-Leal ◽  
Andrea Suarez-Ocón ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Muscular Dystrophies

Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies

2017 ◽  
Vol 56 (1) ◽  
pp. 117-121 ◽  
Author(s):  
Jingzi Zhong ◽  
Tiantian Xu ◽  
Gang Chen ◽  
Haixia Liao ◽  
Jiapeng Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Dystrophin Gene ◽  
Muscular Dystrophies

A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy

2021 ◽  
Vol 14 (7) ◽  
pp. e242341
Author(s):  
Sandra Ganchinho Lucas ◽  
Inês Vieira Santos ◽  
Filipe Jorge Pencas Alfaiate ◽  
Ireneia Lino
Keyword(s):  
Genetic Analysis ◽  
Disease Progression ◽  
Gene Mutation ◽  
Muscle Biopsy ◽  
Autosomal Recessive ◽  
Lower Limbs ◽  
Muscular Dystrophies ◽  
Disease Evolution ◽  
First Report ◽  
Miyoshi Myopathy

Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromyography showed a myopathic pattern, and muscle biopsy revealed dystrophic changes with absence of dysferlin. Genetic analysis was positive for a mutation in the c3367_3368del DYSF gene (p.Lys1123GLUFS*2). After 8 years of disease evolution the symptomatology worsened. This is the first report of this mutation of the DYSF gene identified in a non-consanguineous Portuguese family, studied over 8 years. We believe the mutation is responsible for the Miyoshi myopathy. Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.

Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

1997 ◽  
Vol 61 (6) ◽  
pp. 491-496 ◽  
Author(s):  
K. HIDAKA ◽  
I. IUCHI ◽  
M. TOMITA ◽  
Y. WATANABE ◽  
Y. MINATOGAWA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patient

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes

Genetic analysis of non-toxic liver fibrosis in a congenic mouse intercross

2016 ◽  
Vol 54 (08) ◽  
Author(s):  
R Hall ◽  
K Hochrath ◽  
F Grünhage ◽  
F Lammert
Keyword(s):  
Liver Fibrosis ◽  
Genetic Analysis ◽  
Congenic Mouse

Genetic analysis of congenital myasthenic syndromes (CMS)

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
A Abicht ◽  
JS Müller ◽  
SK Baumeister ◽  
U Schara ◽  
A Hübner ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes
Sign in / Sign up

Export Citation Format

Share Document