FHL1 has been shown to be heavilyexpressed in skeletal and cardiac muscles.[8] In 2008 this was borne out by the discovery that defects in the FHL1 gene are responsible for a number ofMuscular dystrophy-like muscle disorders, ranging from severe, childhood onset diseases through to adult-onset disorders similar toLimb girdle muscular dystrophy. At least 15 disease-causing mutations in this gene have been discovered.[9] At present different research groups are using different terminology for these disorders, which include:
X-linked myopathy with postural muscle atrophy (XMPMA)
An adult-onset muscle disorder known to affect families in Austria and the UK.[10]
Reducing body myopathy (RBM)
A rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. The effects of the disorder can be either severe, with onset of weakness at approximately five years, or adult onset, with weakness occurring in the late 20s, early 30s.[11]
Scapuloperoneal myopathy (SPM)
Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.[12]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Morgan MJ, Madgwick AJ (Aug 1996). "Slim defines a novel family of LIM-proteins expressed in skeletal muscle".Biochemical and Biophysical Research Communications.225 (2):632–8.doi:10.1006/bbrc.1996.1222.PMID8753811.
^Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)".Gene.216 (1):163–70.doi:10.1016/S0378-1119(98)00302-3.PMID9714789.
^Lee SM, Tsui SK, Chan KK, Garcia-Barcelo M, Waye MM, Fung KP, Liew CC, Lee CY (Aug 1998). "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)".Gene.216 (1):163–70.doi:10.1016/S0378-1119(98)00302-3.PMID9714789.
Morgan MJ, Madgwick AJ, Charleston B, Pell JM, Loughna PT (Jul 1995). "The developmental regulation of a novel muscle LIM-protein".Biochemical and Biophysical Research Communications.212 (3):840–6.doi:10.1006/bbrc.1995.2045.PMID7626119.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".Gene.138 (1–2):171–4.doi:10.1016/0378-1119(94)90802-8.PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".Gene.200 (1–2):149–56.doi:10.1016/S0378-1119(97)00411-3.PMID9373149.
Morgan MJ, Madgwick AJ (Feb 1999). "The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle".Biochemical and Biophysical Research Communications.255 (2):245–50.doi:10.1006/bbrc.1999.0179.PMID10049693.
Greene WK, Baker E, Rabbitts TH, Kees UR (May 1999). "Genomic structure, tissue expression and chromosomal location of the LIM-only gene, SLIM1".Gene.232 (2):203–7.doi:10.1016/S0378-1119(99)00125-0.PMID10352231.
Lee SM, Li HY, Ng EK, Or SM, Chan KK, Kotaka M, Chim SS, Tsui SK, Waye MM, Fung KP, Lee CY (Sep 1999). "Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1".Gene.237 (1):253–63.doi:10.1016/S0378-1119(99)00251-6.PMID10524257.
Ng EK, Lee SM, Li HY, Ngai SM, Tsui SK, Waye MM, Lee CY, Fung KP (2001). "Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)".Journal of Cellular Biochemistry.82 (1):1–10.doi:10.1002/jcb.1110.PMID11400158.S2CID25900444.
Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides".Nature Biotechnology.21 (5):566–9.doi:10.1038/nbt810.PMID12665801.S2CID23783563.
McGrath MJ, Mitchell CA, Coghill ID, Robinson PA, Brown S (Dec 2003). "Skeletal muscle LIM protein 1 (SLIM1/FHL1) induces alpha 5 beta 1-integrin-dependent myocyte elongation".American Journal of Physiology. Cell Physiology.285 (6): C1513–26.doi:10.1152/ajpcell.00207.2003.PMID12917103.
