Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Eppie M Yiu; Alfred Klausegger; Leigh B Waddell; Nikolaus Grasern; Lyn Lloyd; Kim Tran; Kathryn N North; Johann Bauer; Penelope McKelvie; C W Chow; Monique M Ryan; Dedee F Murrell

doi:10.1002/mus.22076

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Eppie M Yiu, Alfred Klausegger (Co-author), Leigh B Waddell, Nikolaus Grasern, Lyn Lloyd, Kim Tran, Kathryn N North, Johann Bauer (Co-author), Penelope McKelvie, C W Chow, Monique M Ryan, Dedee F Murrell

Research output: Contribution to journal › Case report › peer-review

13 Citations (Web of Science)

Original language	English
Pages (from-to)	135-141
Journal	MUSCLE & NERVE
Volume	44
Issue number	1
DOIs	https://doi.org/10.1002/mus.22076
Publication status	Published - 2011

Keywords

PYLORIC ATRESIA
DELETION MUTATIONS
GENE-MUTATIONS
SIMPLEX
MUSCLE
ORGANIZATION
CYTOSKELETON
EXPRESSION
DEFECTS

Access to Document

10.1002/mus.22076

Cite this

Yiu, E. M., Klausegger, A., Waddell, L. B., Grasern, N., Lloyd, L., Tran, K., North, K. N., Bauer, J., McKelvie, P., Chow, C. W., Ryan, M. M., & Murrell, D. F. (2011). Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. MUSCLE & NERVE , 44(1), 135-141. https://doi.org/10.1002/mus.22076

Yiu, Eppie M ; Klausegger, Alfred ; Waddell, Leigh B et al. / Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. In: MUSCLE & NERVE 2011 ; Vol. 44, No. 1. pp. 135-141.

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title = "Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.",

keywords = "PYLORIC ATRESIA, DELETION MUTATIONS, GENE-MUTATIONS, SIMPLEX, MUSCLE, ORGANIZATION, CYTOSKELETON, EXPRESSION, DEFECTS",

author = "Yiu, {Eppie M} and Alfred Klausegger and Waddell, {Leigh B} and Nikolaus Grasern and Lyn Lloyd and Kim Tran and North, {Kathryn N} and Johann Bauer and Penelope McKelvie and Chow, {C W} and Ryan, {Monique M} and Murrell, {Dedee F}",

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Yiu, EM, Klausegger, A, Waddell, LB, Grasern, N, Lloyd, L, Tran, K, North, KN, Bauer, J, McKelvie, P, Chow, CW, Ryan, MM & Murrell, DF 2011, 'Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.', MUSCLE & NERVE , vol. 44, no. 1, pp. 135-141. https://doi.org/10.1002/mus.22076

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. / Yiu, Eppie M; Klausegger, Alfred (Co-author); Waddell, Leigh B et al.
In: MUSCLE & NERVE , Vol. 44, No. 1, 2011, p. 135-141.

Research output: Contribution to journal › Case report › peer-review

TY - JOUR

T1 - Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

AU - Yiu, Eppie M

AU - Klausegger, Alfred

AU - Waddell, Leigh B

AU - Grasern, Nikolaus

AU - Lloyd, Lyn

AU - Tran, Kim

AU - North, Kathryn N

AU - Bauer, Johann

AU - McKelvie, Penelope

AU - Chow, C W

AU - Ryan, Monique M

AU - Murrell, Dedee F

PY - 2011

Y1 - 2011

KW - PYLORIC ATRESIA

KW - DELETION MUTATIONS

KW - GENE-MUTATIONS

KW - SIMPLEX

KW - MUSCLE

KW - ORGANIZATION

KW - CYTOSKELETON

KW - EXPRESSION

KW - DEFECTS

U2 - 10.1002/mus.22076

DO - 10.1002/mus.22076

M3 - Case report

C2 - 21674528

SN - 0148-639X

VL - 44

SP - 135

EP - 141

JO - MUSCLE & NERVE

JF - MUSCLE & NERVE

IS - 1

ER -

Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K et al. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. MUSCLE & NERVE . 2011;44(1):135-141. doi: 10.1002/mus.22076