Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2101
Abstract: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes… read more here.
Keywords: dystrophy; limb girdle; variants linked; girdle muscular ... See more keywords
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.01.002
Abstract: Asthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been identified as a sub-type of male infertility. Recent progress has identified several MMAF-associated genes with an autosomal recessive inheritance in human affected individuals,… read more here.
Keywords: cfap47 induce; linked cfap47; variants linked; asthenoteratozoospermia ... See more keywords
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
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DOI: 10.1111/cge.14752
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X‐ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC… read more here.
Keywords: variants linked; adrenoleukodystrophy; ald; abcd1 variants ... See more keywords