Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2
Eur J Neurol
.
2016 Apr;23(4):e19-21.
doi: 10.1111/ene.12914.
Authors
C Fiorillo
1
,
F Moro
1
,
G Brisca
2
,
A Accogli
3
,
F Trucco
4
,
R Trovato
1
,
M Pedemonte
4
,
M Severino
5
,
M Catala
6
,
V Capra
3
,
F M Santorelli
1
,
C Bruno
2
,
A Rossi
5
,
C Minetti
4
Affiliations
1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
2
Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
3
Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
4
Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
5
Paediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
6
Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, and UMR 7622 UPMC and CNRS, Université Pierre et Marie Curie, Paris, France.
PMID:
27000979
DOI:
10.1111/ene.12914
No abstract available
Keywords:
cerebellar hypoplasia; distal SMA.
Publication types
Letter