Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
|
31555977 |
2020 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
CAPN3 mutations cause a limb girdle muscular dystrophy.
|
31612648 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.
|
31268554 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the <i>CAPN3</i> gene.
|
31540302 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
|
31410652 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders.
|
31263448 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
|
29685414 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in CAPN3 cause autosomal recessive limb girdle muscular dystrophy 2A.
|
29528394 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb-girdle muscular dystrophy.
|
28881388 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene.
|
30056071 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
|
30415788 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Among these 105 patients, the most common subtypes were LGMD2B in 52 (49.5%), LGMD2A in 26 (24.8%) and LGMD 2D in eight (7.6%), followed by LGMD1B in seven (6.7%), LGMD1E in four (3.8%), LGMD2I in three (2.9%), and LGMD2E, 2F, 2H, 2K, 2L in one patient (1.0%), respectively.
|
28403181 |
2017 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in calpain-3 cause limb girdle muscular dystrophy 2A.
|
28602176 |
2017 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene.
|
27005420 |
2016 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
|
27259757 |
2016 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies which is caused by mutation in CAPN3 gene.
|
27262448 |
2016 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD.
|
26484845 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
|
26677118 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Interestingly, mutations in CAPN3 underlie limb-girdle muscular dystrophy 2A (LGMD2A).
|
25877298 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations in the gene encoding the muscle-specific family member calpain 3 (CAPN3) underlie limb-girdle muscular dystrophy 2A.
|
25389288 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies.
|
24715573 |
2014 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We conducted a thorough morphometric analysis of muscle fiber size and fiber area in 101 muscles from patients with various forms of LGMD (43 LGMD2A, 30 LGMD2B, 21 LGMD2C-2D-2E, 7 LGMD1C) and 12 normal controls.
|
24618072 |
2014 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Among the genes affected is Calpain 3, which is mutated in limb girdle muscular dystrophy, a disease phenotypically similar to FSHD.
|
23300487 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In an attempt to find a correlation between genotype and muscle pathology in limb-girdle muscular dystrophy 2A we performed histopathological investigation of a group of 31 patients subdivided according to the type of pathologic CAPN3 gene mutation.
|
23821418 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous, some with autosomal dominant (LGMD1) and others with autosomal recessive (LGMD2) inheritance.
|
23622359 |
2013 |