Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These novel approaches may be clinically relevant not only for LGMDR1 but also for other muscular dystrophies with secondary calpainopathy or with abnormal Ca<sup>2+</sup> homeostasis, such as LGMD2B/LGMDR2 or sporadic inclusion body myositis.
|
31540302 |
2019 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
|
25663498 |
2015 |
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The current study aimed to analyze calpain-3 expression in cases diagnosed as muscular dystrophy from the Indian population.
|
22825607 |
2012 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we show that mutations in muscular dystrophy genes (Dmd, Dysf, Capn3, Large) lead to the spontaneous formation of skeletal muscle-derived malignant tumors in mice, presenting as mixed rhabdomyo-, fibro-, and liposarcomas.
|
21533183 |
2011 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
|
20592470 |
2010 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].
|
19048948 |
2008 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Its definitive diagnosis is laborious, since the clinical phenotype is often similar to other types of muscular dystrophy and since the CAPN3 gene encompasses a large genomic region with more than 300 pathogenic mutations described to date.
|
18563459 |
2008 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
LHGDN |
Loss of these CAPN3-mediated activities can explain the "progressive" development of muscular dystrophy.
|
18974005 |
2008 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of these CAPN3-mediated activities can explain the "progressive" development of muscular dystrophy.
|
18974005 |
2008 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We screened 48 unrelated Bulgarian cases with preliminary diagnoses of different types of muscular dystrophy for mutations in the CAPN3 gene.
|
17318636 |
2007 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia.
|
16100770 |
2005 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
|
15221789 |
2004 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
In vitro studies revealed that C3 can bind and cleave titin and that some mutations that are pathogenic in human muscular dystrophy result in reduced affinity of C3 for titin.
|
15138196 |
2004 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We studied dysferlin expression in a total of 176 patients, from 166 LGMD families: 12 LGMD2B patients, 70 with other known forms of muscular dystrophies (LGMD2A, sarcoglycanopathies, LGMD2G), in an attempt to assess the effect of the primary gene-product deficiency on dysferlin.
|
11665864 |
2001 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Allele transmission in intercross progeny demonstrated a statistically significant departure from Mendel's law. capn3-deficient mice show a mild progressive muscular dystrophy that affects a specific group of muscles.
|
11134085 |
2000 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The authors studied the calpain III gene in 107 MD patient muscle biopsies exhibiting normal dystrophin.
|
10102422 |
1999 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
|
9309711 |
1997 |
Muscular Dystrophy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|