A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
GP Ramelli ◽  
F Joncourt ◽  
M Gasparini ◽  
P Tonin
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Novel Mutation

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

2012 ◽  
Vol 45 (4) ◽  
pp. 605-610 ◽  
Author(s):  
Adriano Jimenez-Escrig ◽  
Isabel Gobernado ◽  
Mercedes Garcia-Villanueva ◽  
Antonio Sanchez-Herranz
Keyword(s):  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Lamin A

G.P.14.07 Novel mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a Moldavian patient

2008 ◽  
Vol 18 (9-10) ◽  
pp. 817
Author(s):  
M. Olive ◽  
A. Shatunov ◽  
O. Carmona ◽  
J.A. Martinez-Matos ◽  
L.G. Goldfarb ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Novel Mutation

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1995 ◽  
Vol 10 (2) ◽  
pp. 243-245 ◽  
Author(s):  
F. Piccolo ◽  
S.L. Roberds ◽  
M. Jeanpierre ◽  
F. Leturcq ◽  
K. Azibi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Common Cause

A novel mutation in thePLCD1gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

2012 ◽  
Vol 167 (4) ◽  
pp. 946-949 ◽  
Author(s):  
M. Farooq ◽  
M. Kurban ◽  
O. Abbas ◽  
O. Obeidat ◽  
H. Fujikawa ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Aberrant Splicing

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

2008 ◽  
Vol 146A (20) ◽  
pp. 2657-2662 ◽  
Author(s):  
Hala Mégarbané ◽  
Céline Cluzeau ◽  
Christine Bodemer ◽  
Sylvie Fraïtag ◽  
Myrna Chababi-Atallah ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Unusual Presentation

Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene

2014 ◽  
Vol 24 (6) ◽  
pp. 529-532 ◽  
Author(s):  
Ulrike Bonati ◽  
Nina Bechtel ◽  
Karl Heinimann ◽  
Erich Rutz ◽  
Jacques Schneider ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Lmna Gene
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