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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Neurology
Muscle disease
Email alerts
Muscle disease
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
M M O
Tonini
,
R C M
Pavanello
,
J
Gurgel-Giannetti
,
R J
Lemmers
,
S M
van der Maarel
,
R R
Frants
,
M
Zatz
Journal of Medical Genetics
Feb 2004,
41
(2)
e17;
DOI:
10.1136/jmg.2003.010637
Mitochondrial DNA deletion in “identical” twin brothers
E L
Blakely
,
L
He
,
R W
Taylor
,
P F
Chinnery
,
R N
Lightowlers
,
A M
Schaefer
,
D M
Turnbull
Journal of Medical Genetics
Feb 2004,
41
(2)
e19;
DOI:
10.1136/jmg.2003.011296
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth
Rodney K
Beals
,
Stephen
LaFranchi
Journal of Medical Genetics
Jul 2001,
38
(7)
e22;
DOI:
10.1136/jmg.38.7.e22
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
P F
Chinnery
,
D T
Brown
,
K
Archibald
,
A
Curtis
,
D M
Turnbull
Journal of Medical Genetics
May 2002,
39
(5)
e22;
DOI:
10.1136/jmg.39.5.e22
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the
PABPN1
gene triplet repeat expansion mutation
D O
Robinson
,
A J
Wills
,
S R
Hammans
,
S P
Read
,
J
Sillibourne
Journal of Medical Genetics
May 2006,
43
(5)
e23;
DOI:
10.1136/jmg.2005.037598
Mitochondrial DNA inheritance in patients with deleted mtDNA
Lluis
Quintana-Murci
,
Agnes
Rötig
,
Arnold
Munnich
,
Pierre
Rustin
,
Thomas
Bourgeron
Journal of Medical Genetics
Sep 2001,
38
(9)
e28;
DOI:
10.1136/jmg.38.9.e28
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C
Goizet
,
R
Ben Yaou
,
L
Demay
,
P
Richard
,
S
Bouillot
,
M
Rouanet
,
E
Hermosilla
,
G
Le Masson
,
A
Lagueny
,
G
Bonne
,
X
Ferrer
Journal of Medical Genetics
Mar 2004,
41
(3)
e29;
DOI:
10.1136/jmg.2003.013383
Induction of instability of normal length trinucleotide repeats within human disease genes
L
Fernàndez-López
,
E
Piñeiro
,
R
Marcos
,
A
Velázquez
,
J
Surrallés
Journal of Medical Genetics
Jan 2004,
41
(1)
e3;
DOI:
10.1136/jmg.2003.010298
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S
Shepherd
,
F
Ellis
,
J
Halsall
,
P
Hopkins
,
R
Robinson
Journal of Medical Genetics
Mar 2004,
41
(3)
e33;
DOI:
10.1136/jmg.2003.014274
The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
M L
Valentino
,
P
Barboni
,
C
Rengo
,
A
Achilli
,
A
Torroni
,
R
Lodi
,
C
Tonon
,
B
Barbiroli
,
F
Fortuna
,
P
Montagna
,
A
Baruzzi
,
V
Carelli
Journal of Medical Genetics
Jul 2006,
43
(7)
e38;
DOI:
10.1136/jmg.2005.037507
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