Novel compound heterozygous mutations in PLEC gene causing epidermolysis bullosa simplex with muscular dystrophy, case series of two affected sisters

Compound Heterozygous Mutations

Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly

Journal of Biological Chemistry ◽

10.1074/jbc.m200974200 ◽

2002 ◽

Vol 277 (26) ◽

pp. 23670-23674 ◽

Cited By ~ 43

Author(s):

Kana Yasukawa ◽

Daisuke Sawamura ◽

James R. McMillan ◽

Hideki Nakamura ◽

Hiroshi Shimizu

Keyword(s):

Epidermolysis Bullosa ◽

Intermediate Filament ◽

Compound Heterozygous ◽

Filament Assembly ◽

Compound Heterozygous Mutations

Epidermolysis Bullosa Simplex with Muscular Dystrophy

10.1007/springerreference_109382 ◽

2012 ◽

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2004.11.003 ◽

2005 ◽

Vol 37 (2) ◽

pp. 87-93 ◽

Cited By ~ 12

Author(s):

Yoshie Takahashi ◽

Fatima Rouan ◽

Jouni Uitto ◽

Akemi Ishida-Yamamoto ◽

Hajime Iizuka ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

History Of

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy: A New Case

Pediatric Dermatology ◽

10.1111/j.1525-1470.1994.tb00102.x ◽

1994 ◽

Vol 11 (4) ◽

pp. 342-345 ◽

Cited By ~ 5

Author(s):

Annallsa Patrizi ◽

Vito Lernia ◽

Iria Neri ◽

Lucilla Badiali Giorgi ◽

Massimo Mast

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

New mutations in thePLECgene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy

Clinical and Experimental Dermatology ◽

10.1111/ced.12116 ◽

2013 ◽

pp. n/a-n/a

Author(s):

Q. Chen ◽

Z. M. Lin ◽

H. J. Wang ◽

J. Zhang ◽

J. H. Yin ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Chinese Patient ◽

New Mutations

Pediatric ophthalmoplegia and ptosis associated with epidermolysis bullosa simplex-muscular dystrophy and PLEC mutations

Journal of American Association for Pediatric Ophthalmology and Strabismus ◽

10.1016/j.jaapos.2017.07.113 ◽

2017 ◽

Vol 21 (4) ◽

pp. e32

Author(s):

W. Walker Motley ◽

Wejdan Al-Thawabieh ◽

Anne W. Lucky ◽

Brenda Wong

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance

Archives of Dermatology ◽

10.1001/archderm.124.4.551 ◽

1988 ◽

Vol 124 (4) ◽

pp. 551-554 ◽

Cited By ~ 20

Author(s):

K. M. Niemi

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Recessive Inheritance ◽

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2018.05.1223 ◽

2018 ◽

Vol 79 (3) ◽

pp. AB310

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

Clinical and Experimental Dermatology ◽

10.1111/ced.13610 ◽

2018 ◽

Vol 43 (6) ◽

pp. 752-755 ◽

Cited By ~ 1

Author(s):

F. Ahmad ◽

K. Shah ◽

M. Umair ◽

A. Jan ◽

Irfanullah ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Junctional Epidermolysis Bullosa

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Muscle & Nerve ◽

10.1002/mus.20655 ◽

2006 ◽

Vol 35 (1) ◽

pp. 24-35 ◽

Cited By ~ 33

Author(s):

J.R. McMillan ◽

M. Akiyama ◽

F. Rouan ◽

J.E. Mellerio ◽

E.B. Lane ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽