A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
نویسندگان
چکیده
منابع مشابه
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
BACKGROUND Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other. Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have ...
متن کاملIntrafamilial phenotypic variability in four families with Anderson-Fabry disease.
We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intr...
متن کاملIntrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...
متن کاملNotable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.
BACKGROUND The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in the older adult, "attenuated" FAP, due to mutations at the 5' or 3' ends of the APC gene. AIMS To investigate marked intrafamilial phenotypic variati...
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ژورنال
عنوان ژورنال: Medical Journal of The Islamic Republic of Iran
سال: 2018
ISSN: 1016-1430,2251-6840
DOI: 10.14196/mjiri.32.5