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Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
July 1999,
Prenatal diagnosis,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
January 1999,
The Southeast Asian journal of tropical medicine and public health,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
January 1999,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
August 2002,
Prenatal diagnosis,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
June 1998,
Prenatal diagnosis,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
October 2016,
American journal of perinatology,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
November 2002,
BJOG : an international journal of obstetrics and gynaecology,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
January 1995,
Prenatal diagnosis,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
August 2005,
Prenatal diagnosis,
R J Daniels, and
G K Suthers, and
K E Morrison, and
N H Thomas, and
M J Francis, and
C G Mathew, and
S Loughlin, and
A Heiberg, and
D Wood, and
V Dubowitz
September 2008,
Genetic testing,
