TY  - CHAP
M1  - Book, Section
TI  - Myopathies
A1  - Abid, Farida
A1  - Lotze, Timothy E.
A2  - Kline, Mark W.
Y1  - 2018
N1  - 
T2  - Rudolph's Pediatrics, 23e
AB  - Myopathies  are  disorders  of  the  skeletal  muscle  due  to  a  structural  or  metabolic  abnormality  of  the  muscle  cells  resulting  in  muscle  weakness  and  dysfunction.  They  can  be  due  to  hereditary  or  acquired  causes.  This  chapter  will  focus  specifically  on  inherited  forms  of  myopathies.  Inherited  myopathies  relate  to  specific  genetic  defects  affecting  1  of  many  areas  involved  in  the  integrity  of  the  muscle.  These  include  genes  related  to  proteins  of  ion  channels  (eg,  sodium  channels),  sarcolemma  membrane  (eg,  dystrophin),  sarcomere  (eg,  actin  or  myosin),  or  nuclear  membrane  (eg,  emerin).  In  addition,  some  inherited  myopathies  are  caused  by  impaired  muscle  metabolism  of  carbohydrates,  lipid,  or  the  mitochondrial  electron  transport  chain.  Myopathies  are  named  based  on  the  classical  description  (eg,  Duchenne  and  Becker  muscular  dystrophy),  their  phenotype  to  include  the  distribution  of  weakness  (eg,  limb-girdle  muscular  dystrophy  or  facioscapulohumeral  dystrophy),  or  the  specific  underlying  genetic  defect  (eg,  laminopathy  secondary  to  LMNA  mutations).  This  latter  descriptor  has  some  particular  relevance  as  newer  genetic  methods  have  expanded  the  previously  narrow  spectrum  of  phenotypes  associated  with  a  particular  gene.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1182924205
ER  -