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1                                              FPLD-associated mutations cluster within a small surface
2                     One family with atypical FPLD harbored an R582H alteration in exon 11 of lamin A.
3  lamin A to SREBP1 was noticeably reduced by FPLD mutations.
4 cid substitutions at position 482 that cause FPLD.
5                            Mutations causing FPLD, in contrast to those causing muscle disorders, are
6 ic significance of high FMR, a biomarker for FPLD, in two large cohort studies and may prove useful i
7                 We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been pr
8 roposed that nuclear lamin A/C is altered in FPLD, on the basis of a novel missense mutation (R482Q)
9                             All mutations in FPLD affect the globular C-terminal domain of the lamin
10              Familial partial lipodystrophy (FPLD) is a heterogenous group of syndromes associated wi
11              Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disord
12 d the other, familial partial lipodystrophy (FPLD), involves loss of subcutaneous adipose tissue.
13 ly linked to familial partial lipodystrophy (FPLD).
14 unnigan-type familial partial lipodystrophy (FPLD).
15 ystrophy and familial partial lipodystrophy (FPLD).
16                         The genetic basis of FPLD is unknown.
17 ded by leg fat percentage, as a biomarker of FPLD, but this metric has not previously been characteri
18 e expression and subcellular localization of FPLD lamin A mutants and found no abnormalities.
19 ns could not be detected in lamin A/C in one FPLD family in which there was linkage to chromosome 1q2
20                                          The FPLD mutations R482Q and R482W occurred on different hap
21  well-characterized pedigrees and mapped the FPLD locus to chromosome 1q21-22.
22 cation of the lamin A tail is reduced by two FPLD-causing mutations, G465D and K486N, and by single m
23 al partial lipodystrophy, Dunnigan variety, (FPLD, OMIM 308980) is an autosomal-dominant condition ch
24                 We examined 15 families with FPLD for mutations in lamin A/C.