Results 101 to 110 of about 5,189 (209)

Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To study the characteristics and diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D). Methods The clinical characteristics, EMG, muscle MRI and muscle pathological studies of 2 female patients in a family with LGMD2D were analyzed ...
Li-yu OU, Yi-ming SUN, Jing LI, Liang WANG, Huan LI, Ying ZENG, Ying-yin LIANG, Cheng ZHANG   +7 more
doaj  

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source

The limb-girdle muscular dystrophies [directory], Child, Human, Muscular Dystrophies/*genetics

, 1999
At least 11 different disorders can be recognized to be genetically distinct within the group of muscle diseases known as the limb-girdle muscular dystrophies.
Bushby KM
core  

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey

, 2018
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey.
Ünalp A., Uyanik G., Baydan F., Polat M., Çirak S., Yiş U., Paketçi C., Özer E., Baysal B.T., Aktan G., Hazan F., Akinci G., Okur D., Daimagüler H.S., Danyeli A.E., Hiz S., Diniz G., Bayram E.   +17 more
core   +1 more source

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

We describe a strategy for molecular diagnosis in the autosomal recessive Limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases.
Mercuri E, Pollitt C, Pogue R, Moss JA, Johnson MA, Davison K, Bushby KMD, Anderson LVB, Pyle A, Muntoni F, Sewry C   +10 more
core  

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies

Human Genomics
Limb–girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal ...
Sheyda Khalilian, Mohadeseh Fathi, Raheleh Tangestani, Pegah Larki, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +1 more source

Limb-girdle muscular dystrophies - From genetics to molecular pathology

The limb-girdle muscular dystrophies are a diverse group of muscle-wasting disorders characteristically affecting the large muscles of the pelvic and shoulder girdles. Molecular genetic analyses have demonstrated causative mutations in the genes encoding
Laval SH, Bushby KMD
core  

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic girdles; their classification has been completely revised in recent years because ...
Bushby K, Eymard B, Lochmuller H, Norwood F, De Visser M   +4 more
core  

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source