A journey with LGMD: from protein abnormalities to patient impact
DG Georganopoulou, VG Moisiadis, FA Malik… - The protein journal, 2021 - Springer
The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …
Case report: biallelic variant in the tRNA methyltransferase domain of the AlkB homolog 8 causes syndromic intellectual disability
Intellectual disability (ID) has become very common and is an extremely heterogeneous
disorder, where the patients face many challenges with deficits in intellectual functioning …
disorder, where the patients face many challenges with deficits in intellectual functioning …
A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25
POPDC1 also known as BVES, is a highly conserved transmembrane protein, important for
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
J Alonso-Pérez, L González-Quereda, C Bruno… - Brain, 2022 - academic.oup.com
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …
Biallelic variants in seven different genes Associated with clinically suspected Bardet–Biedl Syndrome
H Nawaz, Mujahid, SA Khan, F Bibi, A Waqas, A Bari… - Genes, 2023 - mdpi.com
Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal
recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic …
recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic …
Homozygous missense variant in POPDC3 causes recessive limb‐girdle muscular dystrophy type 26
Background Limb‐girdle muscular dystrophy (LGMD) comprises a heterogeneous group of
diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles …
diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles …
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X
Background Phosphoglycerate mutase (PGAM) deficiency is associated with a rare
glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants …
glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants …
Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family
Background: Salih myopathy, characterised by both congenital myopathy and fatal dilated
cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles …
cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles …
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous
genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in …
genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in …
Homozygous missense variant in the N-terminal region of ANK3 gene is associated with developmental delay, seizures, speech abnormality, and aggressive behavior
Introduction: Intellectual disability (ID) is a lifelong disability that affects an individual's
learning capacity and adaptive behavior. Such individuals depend on their families for day …
learning capacity and adaptive behavior. Such individuals depend on their families for day …