PMID- 10189220
OWN - NLM
STAT- MEDLINE
DCOM- 19990401
LR  - 20211203
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 1
DP  - 1999
TI  - Novel mutations in African American patients with glycogen storage disease Type
      II. Mutations in brief no. 209. Online.
PG  - 83-4
AB  - The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme,
      acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease
      characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and
      cardiomegaly. We have recently demonstrated that African American patients share 
      a common nonsense R854X mutation in exon 18 (Becker et al., 1998). Two other
      mutations, D645E and M519V, have been identified in individual African American
      patients (Hermans et al., 1993a; Huie et al., 1994a). We describe here three
      novel mutations in this population group: a missense W481R in exon 10, a deletion
      of a T1441 in exon 10, and a splicing defect at the 5' donor site of intron 8
      (IVS g+la) . The splicing defect is shared by two unrelated patients and it is
      linked to intragenic polymorphic sites identical to those found in patients
      bearing the common R854X mutation.
FAU - Raben, N
AU  - Raben N
AD  - Arthritis and Rheumatism Branch, National Institute of Arthritis and
      Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
      20892, USA.
FAU - Lee, E
AU  - Lee E
FAU - Lee, L
AU  - Lee L
FAU - Hirschhorn, R
AU  - Hirschhorn R
FAU - Plotz, P H
AU  - Plotz PH
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Amino Acid Substitution/genetics
MH  - Blacks/*genetics
MH  - Glycogen Storage Disease Type II/*genetics
MH  - Humans
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
EDAT- 1999/04/03 03:16
MHDA- 2000/06/22 10:00
CRDT- 1999/04/03 03:16
PHST- 1999/04/03 03:16 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/03 03:16 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU11>3.0.CO;2-8 [pii]
AID - 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(1):83-4. doi:
      10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2.