TY  - CHAP
M1  - Book, Section
TI  - Spinal Muscular Atrophy
A1  - Panozzo, Cristina
A1  - Frugier, Tony
A1  - Cifuentes-Diaz, Carmen
A1  - Melki, Judith
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.270
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Spinal  muscular  atrophies  (SMA)  are  characterized  by  degeneration  of  lower  motor  neurons  and  occasionally  bulbar  motor  neurons  leading  to  progressive  limb  and  trunk  paralysis  associated  with  muscular  atrophy.  Childhood  SMA  is  a  frequent  recessive  autosomal  disorder  and  represents  a  common  genetic  cause  of  death  in  childhood.  A  positional  cloning  strategy  allowed  the  localization  and  the  identification  of  the  survival  of  motor  neuron  gene  (SMN).  These  developments  have  greatly  improved  the  clinical  management  and  family  planning  options  of  SMA  patients  and  their  parents.  Furthermore,  the  presence  or  the  absence  of  a  SMN  gene  defect  contributed  to  a  better  nosology  of  SMA-related  diseases.  The  last  10  years  saw  major  advances  in  the  field  of  SMA.  The  function  of  the  SMN  gene  product  has  been,  at  least  partly,  elucidated,  and  mouse  models  of  SMA  have  been  created.  These  advances  represent  starting  points  for  designing  therapeutic  strategies  of  this  devastating  neurodegenerative  disease  for  which  no  curative  treatment  is  known  so  far.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.270
Y2  - 2024/04/17
UR  - ommbid.mhmedical.com/content.aspx?aid=1181479769
ER  -