Identification of a novel
            SGCA
            missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Neuropediatrics ◽

10.1055/s-2005-867994 ◽

2005 ◽

Vol 36 (02) ◽

Author(s):

M von der Hagen ◽

P Mitzscherling ◽

K Köhler ◽

A Kaindl ◽

G Stoltenburg-Didinger ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Muscle Weakness ◽

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype

Human Molecular Genetics ◽

10.1093/hmg/ddr311 ◽

2011 ◽

Vol 20 (20) ◽

pp. 3925-3932 ◽

Cited By ~ 26

Author(s):

E. Kudryashova ◽

A. Struyk ◽

E. Mokhonova ◽

S. C. Cannon ◽

M. J. Spencer

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Null Phenotype ◽

The Common

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Human Molecular Genetics ◽

10.1093/hmg/4.7.1163 ◽

1995 ◽

Vol 4 (7) ◽

pp. 1163-1167 ◽

Cited By ~ 42

Author(s):

M. R. P. Bueno ◽

E. S. Moreira ◽

M. Vainzof ◽

J. Chamberlain ◽

S. K. Marle ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Autosomal Recessive ◽

Mild Form

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 ( Rumi )

Stem Cell Research ◽

10.1016/j.scr.2017.08.020 ◽

2017 ◽

Vol 24 ◽

pp. 102-105 ◽

Cited By ~ 5

Author(s):

Jianbo Wu ◽

Samuel D. Hunt ◽

Nadine Matthias ◽

Emilia Servián-Morilla ◽

Jonathan Lo ◽

...

Keyword(s):

Stem Cell ◽

Muscular Dystrophy ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Stem Cell Line ◽

New Type ◽

Induced Pluripotent

Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb–Girdle Muscular Dystrophy Type 2A

Journal of Clinical Neuromuscular Disease ◽

10.1097/cnd.0000000000000129 ◽

2016 ◽

Vol 18 (2) ◽

pp. 89-91

Author(s):

Talal M. Al-Harbi ◽

Sameeh O. Abdulmanaʼ ◽

Walid Dridi

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Saudi Arabian ◽

Homozygous Missense Mutation ◽

Capn3 Gene

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

Neuromuscular Disorders ◽

10.1016/s0960-8966(01)00207-3 ◽

2001 ◽

Vol 11 (6-7) ◽

pp. 542-546 ◽

Cited By ~ 29

Author(s):

Tetsuo Kitaguchi ◽

Shiro Matsubara ◽

Masaru Sato ◽

Kazuhito Miyamoto ◽

Shunsaku Hirai ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Autosomal Dominant ◽

Conduction Block ◽

Cardiac Conduction ◽

Lamin A ◽

Japanese Case

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.

Journal of Medical Genetics ◽

10.1136/jmg.35.11.951 ◽

1998 ◽

Vol 35 (11) ◽

pp. 951-953 ◽

Cited By ~ 34

Author(s):

E S Moreira ◽

M Vainzof ◽

S K Marie ◽

V Nigro ◽

M Zatz ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Severe Phenotype

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

European Journal of Pediatrics ◽

10.1007/s00431-005-1752-6 ◽

2005 ◽

Vol 165 (1) ◽

pp. 62-63 ◽

Cited By ~ 5

Author(s):

Maja von der Hagen ◽

Angela M. Kaindl ◽

Kathrin Koehler ◽

Petra Mitzscherling ◽

Hans-Jürgen Häusler ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Correlation between morphological and electro-physiological features in limb-girdle muscular dystrophy

Electroencephalography and Clinical Neurophysiology ◽

10.1016/s0013-4694(97)88200-8 ◽

1997 ◽

Vol 103 (1) ◽

pp. 65

Author(s):

S Groppa

Keyword(s):

Muscular Dystrophy ◽

Investigating The Regulation And Role Of P38 Mapk In Collagen-Related Limb Girdle Muscular Dystrophy

10.30707/etd2020.1606247535.293019ap ◽

2020 ◽

Author(s):

Briseida Oceguera-Perez

Keyword(s):

Muscular Dystrophy ◽

P38 Mapk ◽